β-catenin (CTNNB1) S33C mutation in ovarian microcystic stromal tumors

Am J Surg Pathol. 2011 Oct;35(10):1429-40. doi: 10.1097/PAS.0b013e31822d6c71.

Abstract

Microcystic stromal tumor (MCST) is a recently described subtype of ovarian tumor characterized by prominent microcystic histologic pattern and diffuse immunoreactivity for CD10 and vimentin. However, its pathobiology, particularly its histogenesis, remains largely unclear. Here, we report 2 cases of ovarian MCST, in which we have performed extensive histologic, immunohistochemical, and genetic investigations to determine its distinct nature among ovarian neoplasms. The patients were 32 and 41 years of age. Both tumors were solid and cystic masses involving the right ovary. Microscopically, tumor cells with generally bland, round-to-ovoid nuclei grew in microcystic, macrocystic, and solid patterns. Intervening thick fibrous stroma was observed. Immunohistochemically, tumor cells were diffusely and strongly positive for CD10, vimentin, and Wilms tumor 1. Furthermore, we detected aberrant nuclear expression of β-catenin protein in both cases. Of interest, mutation analyses revealed the presence of an identical point mutation, c.98C>G, in exon 3 of β-catenin (CTNNB1) in both tumors. This is an oncogenic mutation that causes replacement of serine with cysteine at codon 33, leading to the loss of a phosphorylation site in the β-catenin protein. The results of this study strongly suggest that dysregulation of the Wnt/β-catenin pathway plays a fundamental role in the pathogenesis of ovarian MCST. Finally, by comparing the immunophenotype of MCST with its histologic mimics and other ovarian sex cord-stromal tumors, we were able to identify unique features of MCST and a panel of markers useful in differential diagnosis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenoma / genetics
  • Adenoma / metabolism
  • Adenoma / pathology*
  • Adult
  • Biomarkers, Tumor / metabolism
  • Cell Cycle Proteins
  • Cell Nucleus / metabolism
  • Cell Nucleus / pathology
  • DNA Mutational Analysis
  • Female
  • Humans
  • Neprilysin / metabolism
  • Nuclear Proteins / metabolism
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / metabolism
  • Ovarian Neoplasms / pathology*
  • Point Mutation*
  • RNA Splicing Factors
  • Stromal Cells / metabolism
  • Stromal Cells / pathology*
  • Vimentin / metabolism
  • beta Catenin / genetics*
  • beta Catenin / metabolism

Substances

  • Biomarkers, Tumor
  • CTNNB1 protein, human
  • Cell Cycle Proteins
  • Nuclear Proteins
  • RNA Splicing Factors
  • Vimentin
  • WTAP protein, human
  • beta Catenin
  • Neprilysin